Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.P1472_R1473del1
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FN1

NM_212482.4:p.P1472_R1473del1

Associated Papers

Clinicopathological features of familial fibronectin glomerulopathy caused by a splice site variant in the Fibronectin 1 gene: a case report.

Nagayama Y et al.

Cen Case Reports, 2025

Aberrant serum-derived FN1 variants bind to integrin β1 on glomerular endothelial cells contributing to thin basement membrane nephropathy.

Zhou X et al.

International Journal of Biological Macromolecules, 2024

Fibronectin glomerulopathy in an elderly patient with FN1 gene mutation: a case report and literature review.

Choi JY et al.

Bmc Nephrology, 2024

A case of unexpected diagnosis of fibronectin glomerulopathy with histological features of membranoproliferative glomerulonephritis.

Hata M et al.

Bmc Nephrology, 2024

A novel variant in FN1 in a family with fibronectin glomerulopathy.

Aslam N et al.

Human Genome Variation, 2019

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS et al.

American Journal of Human Genetics, 2017

Fibronectin Glomerulopathy: A Rare Autosomal Dominant Glomerular Disease.

Wu J et al.

Chinese Medical Journal, 2017

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review.

Takii M et al.

Bmc Nephrology, 2017

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

Ohtsubo H et al.

Pediatric Nephrology (berlin, Germany), 2016

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